Disease #04285

Official abbreviation LGMD-2A
Name dystrophy, muscular, limb-girdle, type 2A (LGMD-2A)
OMIM ID 253600
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 9
Phenotype entries for this disease 7
Associated with 1 gene CAPN3
Associated tissues -
Disease features -
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Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00080923 - Trujillano et al., submitted unaffected parents - - - - - 0 - - LGMD-2A Muscular dystrophy, limb-girdle, type 2A (OMIM:253600) CAPN3 CAPN3 1 1 Daniel Trujillano
00155749 - - - F no Colombia - 68y 0 - - LGMD-2A - CAPN3 CAPN3 2 1 Martine Tetreault
00289314 - - - - - France - - 0 - - LGMD-2A - CAPN3 CAPN3 2 1 Svetlana Gorokhova
00289315 - - - - - France - - 0 - - LGMD-2A - CAPN3 CAPN3 2 1 Svetlana Gorokhova
00289316 - - - - - France - - 0 - - LGMD-2A - CAPN3 CAPN3 2 1 Svetlana Gorokhova
00289317 - - - - - France - - 0 - - LGMD-2A - CAPN3 CAPN3 2 1 Svetlana Gorokhova
00289318 - - - - - Argentina - - 0 - - LGMD-2A - CAPN3 CAPN3 2 1 Svetlana Gorokhova
00289319 - - - - - France - - 0 - - LGMD-2A - CAPN3 CAPN3 2 1 Svetlana Gorokhova
00301522 - - 2 generation family, 2 affected (2M), unaffected heterozygous carrier father M no Greece - 34y 0 - - LGMD-2A - CAPN3 CAPN3 2 1 Helen Latsoudis
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